Hutchesson A C, Gray R G, Spencer D A, Keir G
Birmingham Children's Hospital, Department of Clinical Chemistry.
Arch Dis Child. 1995 May;72(5):445-6. doi: 10.1136/adc.72.5.445.
A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
一名3周大的男婴出现甲状腺功能异常，接受了甲状腺素治疗。他发展为包括耳聋和肾病综合征在内的多系统疾病，并在3个月大时死亡。死后诊断为糖蛋白缺乏综合征（CDGS）。对于所有患有明显不相关的多种临床或生化异常的婴儿，都应考虑CDGS。
